Kathryn E. Oliver

This study evaluates VX-121's efficacy across 232 rare CFTR variants, finding it generally more effective than VX-445 but with one variant showing reduced selectivity.

This study investigates how calnexin modulates the expression and pharmacological rescue of CFTR variants using deep mutational scanning, revealing its role in CFTR assembly and variant-specific corrector responses.

This study benchmarks AlphaMissense's ability to predict pathogenicity of CFTR missense variants using clinical and functional metrics, finding moderate correlations with some outcomes but limited utility for pharmacological response.